Variant report

Variant	nsv1020308
Chromosome Location	chr5:17410272-17462953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:384)
CpG islands
(count:244)
Chromatin interactive
region (count:18)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:17413435-17413764	K562	blood:	n/a	n/a
2	ATF1	chr5:17415654-17415786	K562	blood:	n/a	n/a
3	ATF2	chr5:17425402-17425976	GM12878	blood:	n/a	n/a
4	ATF2	chr5:17426396-17426854	GM12878	blood:	n/a	n/a
5	ATF2	chr5:17425371-17425899	GM12878	blood:	n/a	n/a
6	ATF3	chr5:17443879-17444164	K562	blood:	n/a	n/a
7	BACH1	chr5:17434247-17434354	K562	blood:	n/a	n/a
8	BACH1	chr5:17415528-17415532	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr5:17413521-17413685	K562	blood:	n/a	chr5:17413586-17413600
10	BATF	chr5:17413423-17413703	GM12878	blood:	n/a	chr5:17413589-17413600
11	BATF	chr5:17425526-17425766	GM12878	blood:	n/a	n/a
12	BCLAF1	chr5:17436516-17437140	GM12878	blood:	n/a	n/a
13	BHLHE40	chr5:17456049-17456242	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:17425193-17426019	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:17413400-17413989	K562	blood:	n/a	n/a
16	BHLHE40	chr5:17413480-17413606	GM12878	blood:	n/a	n/a
17	CCNT2	chr5:17413432-17413642	K562	blood:	n/a	n/a
18	CEBPB	chr5:17444051-17444276	K562	blood:	n/a	n/a
19	CEBPB	chr5:17443930-17444116	HepG2	liver:	n/a	n/a
20	CEBPB	chr5:17413506-17413705	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr5:17449024-17449337	HepG2	liver:	n/a	chr5:17449175-17449186
22	CEBPB	chr5:17435132-17435251	A549	lung:	n/a	n/a
23	CEBPB	chr5:17411531-17411914	IMR90	lung:	n/a	chr5:17411694-17411707 chr5:17411696-17411707 chr5:17411696-17411707 chr5:17411694-17411707
24	CEBPB	chr5:17448970-17449405	A549	lung:	n/a	chr5:17449175-17449186
25	CEBPB	chr5:17443973-17444164	K562	blood:	n/a	n/a
26	CEBPB	chr5:17449048-17449320	Hela-S3	cervix:	n/a	chr5:17449175-17449186
27	CEBPB	chr5:17418170-17418517	MCF-7	breast:	n/a	n/a
28	CEBPB	chr5:17449019-17449300	K562	blood:	n/a	chr5:17449175-17449186
29	CEBPB	chr5:17449006-17449365	IMR90	lung:	n/a	chr5:17449175-17449186
30	CEBPB	chr5:17435153-17435304	HepG2	liver:	n/a	n/a
31	CEBPB	chr5:17428943-17429143	K562	blood:	n/a	chr5:17429009-17429018 chr5:17429007-17429018 chr5:17429007-17429020
32	CEBPB	chr5:17445308-17445697	MCF-7	breast:	n/a	n/a
33	CEBPB	chr5:17444001-17444214	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr5:17449051-17449354	A549	lung:	n/a	chr5:17449175-17449186
35	CEBPB	chr5:17428888-17429095	IMR90	lung:	n/a	chr5:17429009-17429018 chr5:17429007-17429018 chr5:17429007-17429020
36	CEBPB	chr5:17428891-17429120	A549	lung:	n/a	chr5:17429009-17429018 chr5:17429007-17429018 chr5:17429007-17429020
37	CEBPB	chr5:17411605-17411851	A549	lung:	n/a	chr5:17411694-17411707 chr5:17411696-17411707 chr5:17411696-17411707 chr5:17411694-17411707
38	CEBPB	chr5:17418161-17418572	MCF-7	breast:	n/a	n/a
39	CEBPB	chr5:17443942-17444214	A549	lung:	n/a	n/a
40	CHD1	chr5:17433388-17433390	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr5:17430191-17430254	HepG2	liver:	n/a	n/a
42	CHD2	chr5:17413030-17413073	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr5:17413500-17413736	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr5:17412805-17412837	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr5:17415552-17415775	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr5:17413311-17413700	K562	blood:	n/a	n/a
47	CTCF	chr5:17438309-17438355	Pancreas_OC	pancreas:	n/a	chr5:17438327-17438348
48	CTCF	chr5:17438160-17438425	H1-hESC	embryonic stem cell:	n/a	chr5:17438327-17438348
49	CTCF	chr5:17413522-17413555	GM12892	blood:	n/a	n/a
50	CTCF	chr5:17438211-17438434	H1-hESC	embryonic stem cell:	n/a	chr5:17438327-17438348

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17414184-17414234	HCT-116	colon:	n/a
2	chr5:17427098-17427148	AG09309	skin:	n/a
3	chr5:17414184-17414234	Caco-2	colon:	n/a
4	chr5:17427098-17427148	ProgFib	skin:	n/a
5	chr5:17427098-17427148	HCF	heart:	n/a
6	chr5:17436715-17436765	LNCaP	prostate:	n/a
7	chr5:17444401-17444451	AG04449	skin:	fetal
8	chr5:17414184-17414234	NT2-D1	testis:	n/a
9	chr5:17427098-17427148	LNCaP	prostate:	n/a
10	chr5:17427098-17427148	PANC-1	pancreas:	n/a
11	chr5:17436715-17436765	K562	blood:	n/a
12	chr5:17427098-17427148	HEEpiC	esophagus:	n/a
13	chr5:17436715-17436765	T-47D	breast:	n/a
14	chr5:17427098-17427148	NHDF-neo	bronchial:	n/a
15	chr5:17427098-17427148	GM12878	blood:	n/a
16	chr5:17436715-17436765	HIPEpiC	eye:	n/a
17	chr5:17427098-17427148	Jurkat	blood:	n/a
18	chr5:17436715-17436765	HEK293	kidney:	embryo
19	chr5:17436715-17436765	NB4	blood:	n/a
20	chr5:17427098-17427148	HEK293	kidney:	embryo
21	chr5:17444401-17444451	NHDF-neo	bronchial:	n/a
22	chr5:17427098-17427148	HCT-116	colon:	n/a
23	chr5:17444401-17444451	HepG2	liver:	n/a
24	chr5:17427098-17427148	MCF10A-Er-Src	breast:	n/a
25	chr5:17444401-17444451	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:17444401-17444451	A549	lung:	n/a
27	chr5:17414184-17414234	LNCaP	prostate:	n/a
28	chr5:17444401-17444451	SK-N-MC	brain:	n/a
29	chr5:17427098-17427148	MCF-7	breast:	n/a
30	chr5:17444401-17444451	K562	blood:	n/a
31	chr5:17427098-17427148	NB4	blood:	n/a
32	chr5:17444401-17444451	Caco-2	colon:	n/a
33	chr5:17444401-17444451	U87	brain:	n/a
34	chr5:17427098-17427148	HUVEC	blood vessel:	n/a
35	chr5:17436715-17436765	GM19239	blood:	n/a
36	chr5:17444401-17444451	IMR90	lung:	fetal
37	chr5:17444401-17444451	LNCaP	prostate:	n/a
38	chr5:17427098-17427148	AoSMC	blood vessel:	n/a
39	chr5:17414184-17414234	BE2_C	brain:	n/a
40	chr5:17436715-17436765	GM06990	blood:	n/a
41	chr5:17414184-17414234	AG10803	skin:	n/a
42	chr5:17427098-17427148	SAEC	small airway:	n/a
43	chr5:17436715-17436765	Jurkat	blood:	n/a
44	chr5:17427098-17427148	HCPEpiC	choroid plexus:	n/a
45	chr5:17414184-17414234	AG04450	lung:	fetal
46	chr5:17427098-17427148	BJ	skin:	n/a
47	chr5:17414184-17414234	HRE	kidney:	n/a
48	chr5:17444401-17444451	HCF	heart:	n/a
49	chr5:17427098-17427148	SK-N-MC	brain:	n/a
50	chr5:17414184-17414234	U87	brain:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
2	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
3	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
4	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
5	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
6	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
7	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
8	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
9	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
10	chr5:17216329..17216875-chr5:17413138..17413983,2	MCF-7	breast:
11	chr5:17401084..17403430-chr5:17409103..17412028,2	K562	blood:
12	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
13	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
14	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
15	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
16	chr5:17216689..17219268-chr5:17450632..17453590,2	MCF-7	breast:
17	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
18	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO10-8	chr5:17432016-17433619	ucscGeneNc_uc003jga_2
2	lnc-BASP1-3	chr5:17441577-17441809	NONHSAT100641
3	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
4	lnc-BASP1-11	chr5:17457474-17457838	l_2885_chr5:17456969-17494846_brain
5	lnc-BASP1-4	chr5:17445736-17446039	XLOC_004309
6	lnc-BASP1-3	chr5:17430053-17430082	XLOC_004308
7	lnc-BASP1-3	chr5:17441578-17441803	XLOC_004308
8	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
9	lnc-BASP1-3	chr5:17436846-17437322	XLOC_004308
10	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
11	lnc-BASP1-3	chr5:17412000-17412207	NONHSAT100631
12	lnc-BASP1-3	chr5:17440222-17440293	NONHSAT100641
13	lnc-BASP1-3	chr5:17441578-17442297	XLOC_004308
14	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
15	lnc-BASP1-3	chr5:17430038-17430385	NONHSAT100631
16	lnc-BASP1-3	chr5:17441578-17441809	XLOC_004308
17	lnc-BASP1-11	chr5:17456970-17457429	l_2885_chr5:17456969-17494846_brain
18	lnc-BASP1-3	chr5:17440223-17440293	XLOC_004308
19	lnc-BASP1-3	chr5:17441578-17442654	XLOC_004308
20	lnc-BASP1-3	chr5:17441578-17441826	NONHSAT100634
21	lnc-BASP1-3	chr5:17412001-17412207	XLOC_004308
22	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
23	lnc-MYO10-8	chr5:17440311-17440416	ucscGeneNc_uc003jga_2
24	lnc-BASP1-3	chr5:17441578-17441846	XLOC_004308
25	lnc-BASP1-3	chr5:17436845-17437322	NONHSAT100641
26	lnc-BASP1-3	chr5:17437289-17437322	XLOC_004308
27	lnc-MYO10-8	chr5:17437952-17438549	ucscGeneNc_uc003jga_2

No data

Variant related genes	Relation type
ENSG00000248455	TF binding region
ENSG00000249662	TF binding region
ENSG00000248455	CpG island
ENSG00000249662	CpG island
ENSG00000176788	chromatin interactions
ENSG00000215196	chromatin interactions
RAE1	miRNA target sites
RNF41	miRNA target sites
GTF2I	miRNA target sites
PRKCE	miRNA target sites

Extended variants
information (count: 2018 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2018 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572341300	chr5:17410288-17410289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541302789	chr5:17410332-17410333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142369265	chr5:17410344-17410345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528700568	chr5:17410406-17410407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35427720	chr5:17410429-17410430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115563324	chr5:17410433-17410434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562344790	chr5:17410446-17410447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10071892	chr5:17410452-17410453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548018810	chr5:17410495-17410496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184453327	chr5:17410511-17410512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150191757	chr5:17410543-17410544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547630577	chr5:17410601-17410602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570720749	chr5:17410602-17410603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539358032	chr5:17410609-17410610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532893424	chr5:17410632-17410633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2457758	chr5:17410655-17410656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569993274	chr5:17410742-17410743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77822163	chr5:17410775-17410776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555467369	chr5:17410793-17410794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58124586	chr5:17410883-17410884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs145120495	chr5:17410889-17410890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374091759	chr5:17410917-17410918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557935931	chr5:17410921-17410922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578161529	chr5:17410956-17410957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149107751	chr5:17410990-17410991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562495254	chr5:17410998-17410999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139681344	chr5:17411006-17411007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138648892	chr5:17411020-17411021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377627114	chr5:17411038-17411039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573704778	chr5:17411077-17411078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2459820	chr5:17411159-17411160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs527392773	chr5:17411173-17411174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547568917	chr5:17411200-17411201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564323239	chr5:17411223-17411224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141641364	chr5:17411243-17411244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549844052	chr5:17411264-17411265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555777074	chr5:17411269-17411270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570013182	chr5:17411298-17411299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535451005	chr5:17411305-17411306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548979004	chr5:17411311-17411312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565792975	chr5:17411312-17411313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534793922	chr5:17411325-17411326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557926284	chr5:17411370-17411371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578139033	chr5:17411384-17411385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145307624	chr5:17411411-17411412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58029280	chr5:17411516-17411517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574292437	chr5:17411520-17411521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541807081	chr5:17411532-17411533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377499164	chr5:17411578-17411579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188850238	chr5:17411602-17411603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17403000-17413000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:17404600-17411200	Weak transcription	Fetal Brain Male	brain
3	chr5:17407000-17413000	Weak transcription	Stomach Mucosa	stomach
4	chr5:17407200-17411200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:17407200-17411400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:17407200-17411400	Weak transcription	NHEK	skin
7	chr5:17407200-17411800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:17407200-17411800	Weak transcription	HMEC	breast
9	chr5:17407200-17412200	Weak transcription	NH-A	brain
10	chr5:17407800-17413200	Weak transcription	Hela-S3	cervix
11	chr5:17411200-17412400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:17411200-17416000	Enhancers	Fetal Brain Male	brain
13	chr5:17411400-17412000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:17411400-17412200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:17411400-17412600	Enhancers	NHEK	skin
16	chr5:17411600-17411800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:17411600-17411800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:17411600-17412800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:17411600-17413000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:17411800-17412000	Enhancers	Fetal Brain Female	brain
21	chr5:17411800-17412200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:17411800-17412200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:17411800-17412200	Enhancers	HMEC	breast
24	chr5:17411800-17412200	Enhancers	Osteobl	bone
25	chr5:17411800-17412400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:17411800-17413000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:17412000-17412200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr5:17412000-17412200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:17412000-17412200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:17412000-17412200	Enhancers	Fetal Kidney	kidney
31	chr5:17412000-17412800	Weak transcription	Fetal Brain Female	brain
32	chr5:17412000-17413200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:17412000-17415200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:17412200-17412400	Enhancers	Brain Germinal Matrix	brain
35	chr5:17412200-17412600	Enhancers	NH-A	brain
36	chr5:17412200-17413000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:17412200-17413000	Weak transcription	Fetal Kidney	kidney
38	chr5:17412200-17413200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:17412200-17413400	Weak transcription	HMEC	breast
40	chr5:17412200-17413600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:17412200-17414400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:17412400-17412600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:17412400-17413200	Enhancers	Brain Cingulate Gyrus	brain
44	chr5:17412400-17413600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:17412400-17414400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr5:17412400-17416000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr5:17412600-17413600	Weak transcription	NHEK	skin
48	chr5:17412600-17415600	Weak transcription	NH-A	brain
49	chr5:17412600-17416000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:17412800-17413000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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